OCCM
MCID: CRT069
MIFTS: 30

Cortical Malformations, Occipital (OCCM)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cortical Malformations, Occipital

MalaCards integrated aliases for Cortical Malformations, Occipital:

Name: Cortical Malformations, Occipital 56 29 13 6 39 71
Occm 56 73
Occipital Malformations of Cortical Development 58
Occipital Pachygyria and Polymicrogyria 58
Cortical Malformations Occipital 73
Occipital Mcd 58

Characteristics:

Orphanet epidemiological data:

58
occipital pachygyria and polymicrogyria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
three unrelated girls have been reported (as of july 2011)
onset of seizures ranges from 2 to 11 years


HPO:

31
cortical malformations, occipital:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 614115
MeSH 43 D054220
ICD10 via Orphanet 33 Q04.3
Orphanet 58 ORPHA280640
MedGen 41 C3279875
UMLS 71 C3279875

Summaries for Cortical Malformations, Occipital

OMIM : 56 Occipital cortical malformations (OCCM) is an autosomal recessive condition in which affected individuals develop seizures, sometimes associated with transient visual changes. Brain MRI shows both pachygyria and polymicrogyria restricted to the lateral occipital lobes (summary by Barak et al., 2011). (614115)

MalaCards based summary : Cortical Malformations, Occipital, is also known as occm, and has symptoms including absence seizures An important gene associated with Cortical Malformations, Occipital is LAMC3 (Laminin Subunit Gamma 3). Affiliated tissues include brain, occipital lobe and bone, and related phenotypes are global developmental delay and generalized tonic-clonic seizures

UniProtKB/Swiss-Prot : 73 Cortical malformations occipital: A disease in which affected individuals develop seizures, sometimes associated with transient visual changes. Brain MRI shows both pachygyria and polymicrogyria restricted to the lateral occipital lobes.

Related Diseases for Cortical Malformations, Occipital

Symptoms & Phenotypes for Cortical Malformations, Occipital

Human phenotypes related to Cortical Malformations, Occipital:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 occasional (7.5%) HP:0001263
2 generalized tonic-clonic seizures 31 occasional (7.5%) HP:0002069
3 eeg abnormality 31 HP:0002353
4 visual loss 31 HP:0000572
5 polymicrogyria 31 HP:0002126
6 pachygyria 31 HP:0001302

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
eeg abnormalities
seizures, absence
autonomic symptoms
seizures, tonic-clonic (1 patient)
delayed psychomotor development (1 patient)
more
Head And Neck Eyes:
vision loss, episodic
diminished visual acuity (1 patient)
strabismus, transient (1 patient)

Clinical features from OMIM:

614115

UMLS symptoms related to Cortical Malformations, Occipital:


absence seizures

GenomeRNAi Phenotypes related to Cortical Malformations, Occipital according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.23 LAMC3 TBR1
2 Decreased shRNA abundance GR00251-A-2 9.23 LAMC3 TBR1

Drugs & Therapeutics for Cortical Malformations, Occipital

Search Clinical Trials , NIH Clinical Center for Cortical Malformations, Occipital

Genetic Tests for Cortical Malformations, Occipital

Genetic tests related to Cortical Malformations, Occipital:

# Genetic test Affiliating Genes
1 Cortical Malformations, Occipital 29 LAMC3

Anatomical Context for Cortical Malformations, Occipital

MalaCards organs/tissues related to Cortical Malformations, Occipital:

40
Brain, Occipital Lobe, Bone, Cortex, Eye

Publications for Cortical Malformations, Occipital

Articles related to Cortical Malformations, Occipital:

(show top 50) (show all 86)
# Title Authors PMID Year
1
Recessive LAMC3 mutations cause malformations of occipital cortical development. 56 6
21572413 2011
2
Effect of interleukin-33 on cementoblast-mediated cementum repair during orthodontic tooth movement. 61
31986333 2020
3
CD8+ T lymphocytes enhance the anabolic effect of intermittent parathyroid hormone on cementoblasts. 61
31679847 2019
4
Peroxisome proliferator activated receptor γ promotes mineralization and differentiation in cementoblasts via inhibiting Wnt/β-catenin signaling pathway. 61
31709625 2019
5
Transcription factor 7-like 2-associated signaling mechanism in regulating cementum generation by the NF-κB pathway. 61
31037731 2019
6
Novel LRAP-binding partner revealing the plasminogen activation system as a regulator of cementoblast differentiation and mineral nodule formation in vitro. 61
31621902 2019
7
Nicotine suppresses proliferation and mineralized tissue-associated gene expressions of the cementoblasts. 61
31489997 2019
8
Lithium chloride attenuates suppressed differentiation induced by mechanical strain in cementoblasts. 61
30897979 2019
9
Intermittent parathyroid hormone promotes cementogenesis in a PKA- and ERK1/2-dependent manner. 61
31026057 2019
10
ZnO nanoparticles inhibit the activity of Porphyromonas gingivalis and Actinomyces naeslundii and promote the mineralization of the cementum. 61
31088450 2019
11
[Effect of sclerostin on the functions and related mechanisms of cementoblasts under mechanical stress]. 61
31168982 2019
12
SIRT6 overexpression inhibits cementogenesis by suppressing glucose transporter 1. 61
30256390 2019
13
CXXC5 Mediates P. gingivalis-suppressed Cementoblast Functions Partially via MAPK Signaling Network. 61
31360111 2019
14
Inhibition of Stat3 signaling pathway decreases TNF-α-induced autophagy in cementoblasts. 61
30097714 2018
15
Twist1 Suppresses Cementoblast Differentiation. 61
30336637 2018
16
Treatment Effect or Effective Treatment? Cardiac Compression Fraction and End-tidal Carbon Dioxide Are Higher in Patients Resuscitative Endovascular Balloon Occlusion of the Aorta Compared with Resuscitative Thoracotomy and Open-Chest Cardiac Massage. 61
30747696 2018
17
Sodium fluoride causes oxidative stress and apoptosis in cementoblasts. 61
30130527 2018
18
PTH1R signalling regulates the mechanotransduction process of cementoblasts under cyclic tensile stress. 61
29394342 2018
19
The role of Hedgehog signaling in cementoblast differentiation. 61
29587133 2018
20
Recombinant amelogenin regulates the bioactivity of mouse cementoblasts in vitro. 61
29748557 2018
21
MicroRNA-155-3p Mediates TNF-α-Inhibited Cementoblast Differentiation. 61
28692806 2017
22
Regulatory effects of bone morphogenetic protein-4 on tumour necrosis factor-α-suppressed Runx2 and osteoprotegerin expression in cementoblasts. 61
28244247 2017
23
Cementogenesis is inhibited under a mechanical static compressive force via Piezo1. 61
28418701 2017
24
Unique Roles of the Non-identical MCM Subunits in DNA Replication Licensing. 61
28732205 2017
25
Biostimulation with diode laser positively regulates cementoblast functions, in vitro. 61
28332131 2017
26
Intermittent parathyroid hormone (PTH) promotes cementogenesis and alleviates the catabolic effects of mechanical strain in cementoblasts. 61
28427342 2017
27
Leucine-Rich Amelogenin Peptide (LRAP) Uptake by Cementoblast Requires Flotillin-1 Mediated Endocytosis. 61
27277399 2017
28
Structural basis of Mcm2-7 replicative helicase loading by ORC-Cdc6 and Cdt1. 61
28191893 2017
29
Effects of fibroblast growth factor-2 on cell proliferation of cementoblasts. 61
30895013 2016
30
Screening the Expression Changes in MicroRNAs and Their Target Genes in Mature Cementoblasts Stimulated with Cyclic Tensile Stress. 61
27941605 2016
31
Open chest cardiac massage offers no benefit over closed chest compressions in patients with traumatic cardiac arrest. 61
27537507 2016
32
Metabotropic glutamate receptor 1 promotes cementoblast proliferation via MAP kinase signaling pathways. 61
27261070 2016
33
17β-estradiol regulates the differentiation of cementoblasts via Notch signaling cascade. 61
27289020 2016
34
Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation. 61
26927527 2016
35
Osteoprotegerin Promotes Cementoblastic Activity of Murine Cementoblast Cell Line in vitro. 61
27379348 2016
36
[Preliminary research on the expression of sclerostin mediated by bone morphogenetic protein 2 in cementoblast]. 61
27526447 2016
37
Periodontal healing with a preameloblast-conditioned medium in dogs. 61
26257338 2016
38
TGF-β Signaling Regulates Cementum Formation through Osterix Expression. 61
27180803 2016
39
PTH and Vitamin D Repress DMP1 in Cementoblasts. 61
26276370 2015
40
TNF-α stimulates MMP-3 production via PGE2 signalling through the NF-kB and p38 MAPK pathway in a murine cementoblast cell line. 61
25956994 2015
41
Multi-walled carbon nanotubes promote cementoblast differentiation and mineralization through the TGF-β/Smad signaling pathway. 61
25648319 2015
42
Vitamin D represses dentin matrix protein 1 in cementoblasts and osteocytes. 61
24334408 2014
43
Response of immortalized murine cementoblast cells to hypoxia in vitro. 61
24112739 2013
44
Cryo-EM structure of a helicase loading intermediate containing ORC-Cdc6-Cdt1-MCM2-7 bound to DNA. 61
23851460 2013
45
Ultrasound stimulation attenuates resorption of tooth root induced by experimental force application. 61
23337039 2013
46
The response of cementoblasts to calcium phosphate resin-based and calcium silicate-based commercial sealers. 61
23005923 2013
47
Dental follicle cells and cementoblasts induce apoptosis of ameloblast-lineage and Hertwig's epithelial root sheath/epithelial rests of Malassez cells through the Fas-Fas ligand pathway. 61
22288918 2012
48
The proteome and gene expression profile of cementoblastic cells treated by bone morphogenetic protein-7 in vitro. 61
22093042 2012
49
Ultrasound stimulation attenuates root resorption of rat replanted molars and impairs tumor necrosis factor-α signaling in vitro. 61
21644998 2011
50
Expression of alkaline phosphatase in immortalized murine cementoblasts in response to compression-force. 61
22159376 2011

Variations for Cortical Malformations, Occipital

ClinVar genetic disease variations for Cortical Malformations, Occipital:

6 (show all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LAMC3 NM_006059.4(LAMC3):c.901_902TG[1] (p.Cys301_Glu302delinsTer)short repeat Pathogenic 30416 rs761516738 9:133911644-133911645 9:131036257-131036258
2 LAMC3 NM_006059.4(LAMC3):c.470G>A (p.Trp157Ter)SNV Pathogenic 30417 rs1564365706 9:133901768-133901768 9:131026381-131026381
3 LAMC3 NM_006059.4(LAMC3):c.1156C>T (p.Gln386Ter)SNV Pathogenic 30418 rs387906887 9:133914430-133914430 9:131039043-131039043
4 LAMC3 NM_006059.4(LAMC3):c.1048G>A (p.Gly350Arg)SNV Pathogenic 30419 rs571785750 9:133914322-133914322 9:131038935-131038935
5 LAMC3 NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu)SNV Conflicting interpretations of pathogenicity 194074 rs113443891 9:133932442-133932442 9:131057055-131057055
6 LAMC3 NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln)SNV Conflicting interpretations of pathogenicity 194958 rs146221263 9:133948055-133948055 9:131072668-131072668
7 LAMC3 NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys)SNV Conflicting interpretations of pathogenicity 194959 rs140955110 9:133948184-133948184 9:131072797-131072797
8 LAMC3 NM_006059.4(LAMC3):c.1907G>A (p.Arg636His)SNV Uncertain significance 211360 rs753991024 9:133928320-133928320 9:131052933-131052933
9 LAMC3 NM_006059.4(LAMC3):c.290A>G (p.Gln97Arg)SNV Uncertain significance 279830 rs141758463 9:133884891-133884891 9:131009504-131009504
10 LAMC3 NM_006059.4(LAMC3):c.538C>T (p.Arg180Cys)SNV Uncertain significance 418860 rs146609763 9:133901836-133901836 9:131026449-131026449
11 LAMC3 NM_006059.4(LAMC3):c.3674T>C (p.Val1225Ala)SNV Uncertain significance 430486 rs138481447 9:133952618-133952618 9:131077231-131077231
12 LAMC3 NM_006059.4(LAMC3):c.3268G>A (p.Ala1090Thr)SNV Uncertain significance 547936 rs374180120 9:133948073-133948073 9:131072686-131072686
13 LAMC3 NM_006059.4(LAMC3):c.557G>A (p.Arg186His)SNV Uncertain significance 561148 rs145176060 9:133901855-133901855 9:131026468-131026468
14 LAMC3 NM_006059.4(LAMC3):c.4523C>T (p.Thr1508Ile)SNV Uncertain significance 561049 rs1186517778 9:133966969-133966969 9:131091582-131091582
15 LAMC3 NM_006059.4(LAMC3):c.2125T>C (p.Cys709Arg)SNV Uncertain significance 587412 rs1564379378 9:133932501-133932501 9:131057114-131057114
16 LAMC3 NM_006059.4(LAMC3):c.1218G>A (p.Thr406=)SNV Benign/Likely benign 129449 rs2293518 9:133914570-133914570 9:131039183-131039183
17 LAMC3 NM_006059.4(LAMC3):c.1932C>T (p.Ser644=)SNV Benign/Likely benign 129454 rs12349966 9:133928345-133928345 9:131052958-131052958
18 LAMC3 NM_006059.4(LAMC3):c.2308C>G (p.Arg770Gly)SNV Benign/Likely benign 129456 rs3739510 9:133936571-133936571 9:131061184-131061184
19 LAMC3 NM_006059.4(LAMC3):c.4298C>T (p.Thr1433Met)SNV Benign/Likely benign 129465 rs7024108 9:133962930-133962930 9:131087543-131087543
20 LAMC3 NM_006059.4(LAMC3):c.4378-4A>GSNV Benign/Likely benign 129467 rs4740413 9:133963101-133963101 9:131087714-131087714
21 LAMC3 NM_006059.4(LAMC3):c.521C>A (p.Pro174His)SNV Benign/Likely benign 129470 rs2275137 9:133901819-133901819 9:131026432-131026432
22 LAMC3 NM_006059.4(LAMC3):c.855A>G (p.Ala285=)SNV Benign/Likely benign 129474 rs2275132 9:133911598-133911598 9:131036211-131036211
23 LAMC3 NM_006059.4(LAMC3):c.963C>T (p.Ala321=)SNV Benign/Likely benign 129477 rs2275131 9:133911706-133911706 9:131036319-131036319
24 LAMC3 NM_006059.4(LAMC3):c.454C>T (p.Arg152Cys)SNV Benign 129468 rs45628035 9:133901752-133901752 9:131026365-131026365
25 LAMC3 NM_006059.4(LAMC3):c.3244A>G (p.Ser1082Gly)SNV Benign 129460 rs2275140 9:133948049-133948049 9:131072662-131072662
26 LAMC3 NM_006059.4(LAMC3):c.219T>G (p.His73Gln)SNV Benign 129455 rs3739512 9:133884820-133884820 9:131009433-131009433
27 LAMC3 NM_006059.4(LAMC3):c.1564C>T (p.Pro522Ser)SNV Benign 129451 rs869457 9:133924451-133924451 9:131049064-131049064
28 LAMC3 NM_006059.4(LAMC3):c.4477+13T>CSNV Benign 518394 rs2275143 9:133963217-133963217 9:131087830-131087830

UniProtKB/Swiss-Prot genetic disease variations for Cortical Malformations, Occipital:

73
# Symbol AA change Variation ID SNP ID
1 LAMC3 p.Gly350Arg VAR_066404 rs571785750

Expression for Cortical Malformations, Occipital

Search GEO for disease gene expression data for Cortical Malformations, Occipital.

Pathways for Cortical Malformations, Occipital

GO Terms for Cortical Malformations, Occipital

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